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1 . Academic Journal
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
저자
by
Cuinat, Silvestre
;
Quélin, Chloé
;
Pasquier, Laurent
;
Loget, Philippe
;
Aussel, Dominique
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
Genetic bases and pathogenic mechanisms of nephronophthisis
저자
by
Delous, Marion
;
Gaudé, Helori M.
;
Saunier, Sophie
.
소스
In
Drug Discovery Today: Disease Mechanisms
December 2013 10(3-4):e143-e151
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5 . Academic Journal
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
저자
by
Bouasker, Samir
;
Patel, Nisha
;
Greenlees, Rebecca
;
Wellesley, Diana
;
Taie, Lucas Fares
, et al.
소스
Journal of Medical Genetics; Mar2023, Vol. 60 Issue 3, p294-300, 7p
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7 . Academic Journal
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.
저자
by
Almentina Ramos Shidi, Fatimat
;
Cologne, Audric
;
Delous, Marion
;
Besson, Alicia
;
Putoux, Audrey
, et al.
소스
Nucleic Acids Research; 1/25/2023, Vol. 51 Issue 2, p712-727, 16p
Open Access (OUP)
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7 . Academic Journal
A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish.
저자
by
Ellis, Jillian L.
;
Evason, Kimberley J.
;
Zhang, Changwen
;
Fourman, Makenzie N.
;
Liu, Jiandong
, et al.
소스
Hepatology Communications; Nov2022, Vol. 6 Issue 11, p3083-3097, 15p
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7 . Periodical
Bi-allelic variants in WNT7Bdisrupt the development of multiple organs in humans
저자
by
Bouasker, Samir
;
Patel, Nisha
;
Greenlees, Rebecca
;
Wellesley, Diana
;
Fares Taie, Lucas
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 3 p294-300, 7p
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7 . Academic Journal
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
저자
by
Benoit-Pilven, Clara
;
Besson, Alicia
;
Putoux, Audrey
;
Benetollo, Claire
;
Saccaro, Clément
, et al.
소스
PLoS ONE
. 7/6/2020, Vol. 15 Issue 7, p1-22. 22p.
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7 . Academic Journal
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
저자
by
Reilly, Madeline Louise
;
Stokman, Marijn F
;
Magry, Virginie
;
Jeanpierre, Cecile
;
Alves, Marine
, et al.
소스
Human Molecular Genetics; 3/1/2019, Vol. 28 Issue 5, p778-795, 18p
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7 . Academic Journal
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
저자
by
Macia, Maxence S.
;
Halbritter, Jan
;
Delous, Marion
;
Bredrup, Cecilie
;
Gutter, Arthur
, et al.
소스
American Journal of Human Genetics
. Feb2017, Vol. 100 Issue 2, p323-333. 11p.
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7 . Academic Journal
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
저자
by
Ryan, Rebecca
;
Failler, Marion
;
Reilly, Madeline Louise
;
Garfa-Traore, Meriem
;
Delous, Marion
, et al.
소스
Human Molecular Genetics; 1/15/2018, Vol. 27 Issue 2, p266-282, 17p
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